NM_032861.4(SERAC1):c.1102C>T (p.Arg368Ter) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002298640]|not provided [RCV000520896] |
Chr6:158120489 [GRCh38] Chr6:158541521 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000029218]|not provided [RCV000414395] |
Chr6:158146827 [GRCh38] Chr6:158567859 [GRCh37] Chr6:6q25.3 |
pathogenic |
SERAC1, IVS13DS, G-C, +1 |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000029219] |
Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1167_1170del |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000029220] |
Chr6:158119167..158119170 [GRCh38] Chr6:158540199..158540202 [GRCh37] Chr6:6q25.3 |
pathogenic|likely pathogenic |
NM_032861.4(SERAC1):c.1432CTT[1] (p.Leu479del) |
microsatellite |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000029221] |
Chr6:158116249..158116251 [GRCh38] Chr6:158537281..158537283 [GRCh37] Chr6:6q25.3 |
pathogenic |
SERAC1, 2-BP DUP, 1627TC |
duplication |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000029222] |
Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000106307] |
Chr6:158150516 [GRCh38] Chr6:158571548 [GRCh37] Chr6:6q25.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 |
copy number gain |
See cases [RCV000050604] |
Chr6:141132990..169339571 [GRCh38] Chr6:141454127..169739666 [GRCh37] Chr6:141495820..169481591 [NCBI36] Chr6:6q24.1-27 |
pathogenic |
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] |
Chr6:152376338..170583214 [GRCh38] Chr6:152697473..170892302 [GRCh37] Chr6:152739166..170734227 [NCBI36] Chr6:6q25.2-27 |
pathogenic |
GRCh38/hg38 6q25.3(chr6:157827805-159726548)x3 |
copy number gain |
See cases [RCV000051903] |
Chr6:157827805..159726548 [GRCh38] Chr6:158248837..160147580 [GRCh37] Chr6:158168825..160067570 [NCBI36] Chr6:6q25.3 |
pathogenic |
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 |
copy number loss |
See cases [RCV000052207] |
Chr6:154118058..170602152 [GRCh38] Chr6:154439193..170911240 [GRCh37] Chr6:154480885..170753165 [NCBI36] Chr6:6q25.2-27 |
pathogenic |
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001084834]|not provided [RCV000430682]|not specified [RCV000128021] |
Chr6:158158275 [GRCh38] Chr6:158579307 [GRCh37] Chr6:6q25.3 |
benign|likely benign |
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001512866]|not provided [RCV000676843]|not specified [RCV000128022] |
Chr6:158150579 [GRCh38] Chr6:158571611 [GRCh37] Chr6:6q25.3 |
benign|likely benign |
NM_032861.4(SERAC1):c.249C>T (p.Asp83=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001513672]|not provided [RCV000676842]|not specified [RCV000128023] |
Chr6:158150469 [GRCh38] Chr6:158571501 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.355+11A>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001509747]|not specified [RCV000128024] |
Chr6:158148854 [GRCh38] Chr6:158569886 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.739-10T>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001521212]|not specified [RCV000128025] |
Chr6:158130496 [GRCh38] Chr6:158551528 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1016-11C>T |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001512865]|not specified [RCV000128026] |
Chr6:158120586 [GRCh38] Chr6:158541618 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1293G>A (p.Thr431=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000974687]|SERAC1-related disorder [RCV003894989]|not specified [RCV000128027] |
Chr6:158119044 [GRCh38] Chr6:158540076 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1403+12G>A |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001514765]|not specified [RCV000128028] |
Chr6:158117715 [GRCh38] Chr6:158538747 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) |
duplication |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000190622] |
Chr6:158150452..158150453 [GRCh38] Chr6:158571484..158571485 [GRCh37] Chr6:6q25.3 |
pathogenic|likely pathogenic |
NM_032861.4(SERAC1):c.1828+3A>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001333374] |
Chr6:158113446 [GRCh38] Chr6:158534478 [GRCh37] Chr6:6q25.3 |
uncertain significance |
GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1 |
copy number loss |
See cases [RCV000134896] |
Chr6:154178964..159020369 [GRCh38] Chr6:154500098..159441401 [GRCh37] Chr6:154541790..159361389 [NCBI36] Chr6:6q25.2-25.3 |
likely pathogenic |
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 |
copy number loss |
See cases [RCV000137381] |
Chr6:154539655..170714507 [GRCh38] Chr6:154860789..171023595 [GRCh37] Chr6:154902481..170865520 [NCBI36] Chr6:6q25.2-27 |
pathogenic |
GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1 |
copy number loss |
See cases [RCV000137831] |
Chr6:155378049..163133499 [GRCh38] Chr6:155699183..163554531 [GRCh37] Chr6:155740875..163474521 [NCBI36] Chr6:6q25.3-26 |
pathogenic |
GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1 |
copy number loss |
See cases [RCV000139578] |
Chr6:150381239..159553952 [GRCh38] Chr6:150702375..159974984 [GRCh37] Chr6:150744068..159894974 [NCBI36] Chr6:6q25.1-25.3 |
pathogenic |
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 |
copy number loss |
See cases [RCV000141880] |
Chr6:152793402..170610394 [GRCh38] Chr6:153114537..170919482 [GRCh37] Chr6:153156230..170761407 [NCBI36] Chr6:6q25.2-27 |
pathogenic |
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 |
copy number gain |
See cases [RCV000142594] |
Chr6:152376338..170612001 [GRCh38] Chr6:152697473..170921089 [GRCh37] Chr6:152739166..170763014 [NCBI36] Chr6:6q25.2-27 |
pathogenic |
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 |
copy number gain |
See cases [RCV000143444] |
Chr6:133537271..165875545 [GRCh38] Chr6:133858409..166289033 [GRCh37] Chr6:133900102..166209023 [NCBI36] Chr6:6q23.2-27 |
pathogenic |
NM_032861.4(SERAC1):c.259A>T (p.Asn87Tyr) |
single nucleotide variant |
not specified [RCV000200610] |
Chr6:158150459 [GRCh38] Chr6:158571491 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000987811]|Inborn genetic diseases [RCV004020424]|not provided [RCV000200793] |
Chr6:158158343 [GRCh38] Chr6:158579375 [GRCh37] Chr6:6q25.3 |
likely pathogenic|uncertain significance |
NM_032861.4(SERAC1):c.1483A>C (p.Ile495Leu) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003114358]|Inborn genetic diseases [RCV003165457]|not provided [RCV004700591] |
Chr6:158116203 [GRCh38] Chr6:158537235 [GRCh37] Chr6:6q25.3 |
likely benign|uncertain significance |
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001213095]|not provided [RCV000197235] |
Chr6:158146856 [GRCh38] Chr6:158567888 [GRCh37] Chr6:6q25.3 |
pathogenic|uncertain significance |
NM_032861.4(SERAC1):c.1535C>T (p.Ser512Phe) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002515431]|not provided [RCV000197405] |
Chr6:158114938 [GRCh38] Chr6:158535970 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001080310]|not provided [RCV000441637]|not specified [RCV001727630] |
Chr6:158158302 [GRCh38] Chr6:158579334 [GRCh37] Chr6:6q25.3 |
benign|likely benign|uncertain significance |
NM_032861.4(SERAC1):c.1916G>C (p.Arg639Pro) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001853197]|not provided [RCV000197976] |
Chr6:158111415 [GRCh38] Chr6:158532447 [GRCh37] Chr6:6q25.3 |
pathogenic|uncertain significance |
NM_032861.4(SERAC1):c.*16A>G |
single nucleotide variant |
not specified [RCV000198230] |
Chr6:158111350 [GRCh38] Chr6:158532382 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.3(SERAC1):c.1021G>A (p.Val341Ile) |
single nucleotide variant |
not specified [RCV000199088] |
Chr6:158120570 [GRCh38] Chr6:158541602 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001250054]|not provided [RCV000195564] |
Chr6:158120465 [GRCh38] Chr6:158541497 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1628_1629dup (p.Val544fs) |
microsatellite |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000029222]|not provided [RCV000195622] |
Chr6:158114843..158114844 [GRCh38] Chr6:158535875..158535876 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1501+3_1501+6del |
deletion |
not provided [RCV000199156] |
Chr6:158116179..158116182 [GRCh38] Chr6:158537211..158537214 [GRCh37] Chr6:6q25.3 |
likely pathogenic |
NM_032861.4(SERAC1):c.1347_1350dup (p.Val451fs) |
duplication |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003532048]|not provided [RCV000199325] |
Chr6:158117779..158117780 [GRCh38] Chr6:158538811..158538812 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1916G>A (p.Arg639His) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002588371] |
Chr6:158111415 [GRCh38] Chr6:158532447 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001314802]|Inborn genetic diseases [RCV002517260]|not provided [RCV000200075] |
Chr6:158146878 [GRCh38] Chr6:158567910 [GRCh37] Chr6:6q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 |
copy number gain |
See cases [RCV000449011] |
Chr6:151214792..170892243 [GRCh37] Chr6:6q25.1-27 |
pathogenic |
NM_032861.4(SERAC1):c.91+6T>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000578380] |
Chr6:158158267 [GRCh38] Chr6:158579299 [GRCh37] Chr6:6q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_032861.4(SERAC1):c.1501+2T>C |
single nucleotide variant |
not provided [RCV000579123] |
Chr6:158116183 [GRCh38] Chr6:158537215 [GRCh37] Chr6:6q25.3 |
likely pathogenic |
NM_032861.4(SERAC1):c.1309-18_1309-17del |
microsatellite |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001511423]|not specified [RCV000604268] |
Chr6:158117838..158117839 [GRCh38] Chr6:158538870..158538871 [GRCh37] Chr6:6q25.3 |
benign|likely benign |
NM_032861.4(SERAC1):c.227_228dup (p.Val77fs) |
microsatellite |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003765580]|not provided [RCV000305199] |
Chr6:158150489..158150490 [GRCh38] Chr6:158571521..158571522 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1933C>T (p.Arg645Cys) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002071998]|SERAC1-related disorder [RCV003908894]|not provided [RCV001546542] |
Chr6:158111398 [GRCh38] Chr6:158532430 [GRCh37] Chr6:6q25.3 |
benign|likely benign |
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001526393]|not provided [RCV000514727] |
Chr6:158120432 [GRCh38] Chr6:158541464 [GRCh37] Chr6:6q25.3 |
pathogenic|likely pathogenic |
NM_032861.4(SERAC1):c.1501+16A>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002531178]|not specified [RCV000604132] |
Chr6:158116169 [GRCh38] Chr6:158537201 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000802903]|Inborn genetic diseases [RCV002535056]|not provided [RCV000728088] |
Chr6:158143120 [GRCh38] Chr6:158564152 [GRCh37] Chr6:6q25.3 |
uncertain significance |
GRCh37/hg19 6q25.3(chr6:158392800-159229197)x3 |
copy number gain |
See cases [RCV000447581] |
Chr6:158392800..159229197 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.999T>C (p.Ser333=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001460425]|not specified [RCV000427332] |
Chr6:158128124 [GRCh38] Chr6:158549156 [GRCh37] Chr6:6q25.3 |
benign|likely benign |
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000861164]|not provided [RCV003422393]|not specified [RCV000437699] |
Chr6:158120457 [GRCh38] Chr6:158541489 [GRCh37] Chr6:6q25.3 |
benign|likely benign |
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000861163]|not provided [RCV003430983]|not specified [RCV000417868] |
Chr6:158120454 [GRCh38] Chr6:158541486 [GRCh37] Chr6:6q25.3 |
benign|likely benign |
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000861161]|not specified [RCV000438822] |
Chr6:158117734 [GRCh38] Chr6:158538766 [GRCh37] Chr6:6q25.3 |
benign|likely benign |
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000861162]|not provided [RCV003430984]|not specified [RCV000428555] |
Chr6:158120436 [GRCh38] Chr6:158541468 [GRCh37] Chr6:6q25.3 |
benign|likely benign |
NM_032861.4(SERAC1):c.1308+7G>A |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000884221]|SERAC1-related disorder [RCV003942429]|not specified [RCV000439010] |
Chr6:158119022 [GRCh38] Chr6:158540054 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1592G>A (p.Ser531Asn) |
single nucleotide variant |
not provided [RCV000424539] |
Chr6:158114881 [GRCh38] Chr6:158535913 [GRCh37] Chr6:6q25.3 |
likely pathogenic |
NM_032861.4(SERAC1):c.-14C>T |
single nucleotide variant |
not specified [RCV000432998] |
Chr6:158168152 [GRCh38] Chr6:158589184 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.493C>T (p.Gln165Ter) |
single nucleotide variant |
not provided [RCV000431963] |
Chr6:158144415 [GRCh38] Chr6:158565447 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000972115]|not provided [RCV004721356]|not specified [RCV000426501] |
Chr6:158128206 [GRCh38] Chr6:158549238 [GRCh37] Chr6:6q25.3 |
benign|likely benign |
NM_032861.4(SERAC1):c.1828+10C>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001424388]|not specified [RCV000420287] |
Chr6:158113439 [GRCh38] Chr6:158534471 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.553G>A (p.Glu185Lys) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001851048]|Inborn genetic diseases [RCV004022318]|not specified [RCV000427047] |
Chr6:158144355 [GRCh38] Chr6:158565387 [GRCh37] Chr6:6q25.3 |
likely benign|uncertain significance |
GRCh37/hg19 6q25.3(chr6:155525920-159889169)x1 |
copy number loss |
See cases [RCV000447692] |
Chr6:155525920..159889169 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1491T>A (p.His497Gln) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002526974]|not provided [RCV000479118] |
Chr6:158116195 [GRCh38] Chr6:158537227 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG |
indel |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001814159]|SERAC1-related disorder [RCV003889905]|not provided [RCV000482342] |
Chr6:158113439..158113455 [GRCh38] Chr6:158534471..158534487 [GRCh37] Chr6:6q25.3 |
likely pathogenic |
NM_032861.4(SERAC1):c.1016-31_1016-17del |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002056746]|not provided [RCV001537042]|not specified [RCV000485782] |
Chr6:158120592..158120606 [GRCh38] Chr6:158541624..158541638 [GRCh37] Chr6:6q25.3 |
benign|no classifications from unflagged records |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 |
copy number gain |
See cases [RCV000512067] |
Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_032861.4(SERAC1):c.1308+15_1308+16dup |
duplication |
not specified [RCV000478291] |
Chr6:158119012..158119013 [GRCh38] Chr6:158540044..158540045 [GRCh37] Chr6:6q25.3 |
likely benign |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) |
copy number gain |
See cases [RCV000510595] |
Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_032861.4(SERAC1):c.1403+1G>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000494708] |
Chr6:158117726 [GRCh38] Chr6:158538758 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs) |
duplication |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000494711] |
Chr6:158114826..158114827 [GRCh38] Chr6:158535858..158535859 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.711A>G (p.Glu237=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003645864]|not specified [RCV000603595] |
Chr6:158143083 [GRCh38] Chr6:158564115 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.738+9A>C |
single nucleotide variant |
not provided [RCV000597181] |
Chr6:158143047 [GRCh38] Chr6:158564079 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.77A>G (p.His26Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003262973] |
Chr6:158158287 [GRCh38] Chr6:158579319 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000515616] |
Chr6:158114896 [GRCh38] Chr6:158535928 [GRCh37] Chr6:6q25.3 |
pathogenic|uncertain significance |
NM_032861.4(SERAC1):c.-2+13G>A |
single nucleotide variant |
not specified [RCV000609596] |
Chr6:158168127 [GRCh38] Chr6:158589159 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1152C>G (p.Pro384=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000919008]|not provided [RCV003431146]|not specified [RCV000615806] |
Chr6:158120439 [GRCh38] Chr6:158541471 [GRCh37] Chr6:6q25.3 |
benign|likely benign |
NM_032861.4(SERAC1):c.-7C>T |
single nucleotide variant |
not specified [RCV000601969] |
Chr6:158168145 [GRCh38] Chr6:158589177 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000861165]|not provided [RCV003432648]|not specified [RCV000610930] |
Chr6:158146829 [GRCh38] Chr6:158567861 [GRCh37] Chr6:6q25.3 |
benign|likely benign |
NM_032861.4(SERAC1):c.660A>G (p.Gln220=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000650478] |
Chr6:158143134 [GRCh38] Chr6:158564166 [GRCh37] Chr6:6q25.3 |
likely benign|uncertain significance |
NM_032861.4(SERAC1):c.609+11C>T |
single nucleotide variant |
not specified [RCV000601149] |
Chr6:158144288 [GRCh38] Chr6:158565320 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1502-24dup |
duplication |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002063158]|not specified [RCV000614370] |
Chr6:158114988..158114989 [GRCh38] Chr6:158536020..158536021 [GRCh37] Chr6:6q25.3 |
benign|likely benign |
NM_032861.4(SERAC1):c.610-163GA[19] |
microsatellite |
not provided [RCV001571131] |
Chr6:158143306..158143309 [GRCh38] Chr6:158564338..158564341 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.852+8A>C |
single nucleotide variant |
not specified [RCV000604182] |
Chr6:158130365 [GRCh38] Chr6:158551397 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1403+11C>T |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002063023]|not specified [RCV000599888] |
Chr6:158117716 [GRCh38] Chr6:158538748 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.21C>A (p.Cys7Ter) |
single nucleotide variant |
Mitochondrial oxidative phosphorylation disorder [RCV000616269] |
Chr6:158158343 [GRCh38] Chr6:158579375 [GRCh37] Chr6:6q25.3 |
likely pathogenic |
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn |
complex |
Coffin-Siris syndrome 1 [RCV000714957] |
Chr6:151443333..171115067 [GRCh37] Chr6:6q25.1-27 |
pathogenic |
NM_032861.4(SERAC1):c.566T>G (p.Leu189Arg) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001861853]|not provided [RCV000676841] |
Chr6:158144342 [GRCh38] Chr6:158565374 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000698201] |
Chr6:158158273 [GRCh38] Chr6:158579305 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000694845]|Inborn genetic diseases [RCV004025221] |
Chr6:158120507 [GRCh38] Chr6:158541539 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.92-165C>T |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000714979] |
Chr6:158155516 [GRCh38] Chr6:158576548 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.92-239G>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000714974] |
Chr6:158155590 [GRCh38] Chr6:158576622 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1685-125_1685-124del |
deletion |
not provided [RCV001546870] |
Chr6:158113716..158113717 [GRCh38] Chr6:158534748..158534749 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1308+143T>A |
single nucleotide variant |
not provided [RCV001565755] |
Chr6:158118886 [GRCh38] Chr6:158539918 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1404-76T>C |
single nucleotide variant |
not provided [RCV001546758] |
Chr6:158116358 [GRCh38] Chr6:158537390 [GRCh37] Chr6:6q25.3 |
likely benign |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 |
copy number gain |
not provided [RCV000745400] |
Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 |
copy number gain |
not provided [RCV000745404] |
Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 |
copy number gain |
not provided [RCV000745403] |
Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 |
copy number gain |
not provided [RCV000746100] |
Chr6:150284435..170919470 [GRCh37] Chr6:6q25.1-27 |
pathogenic |
NM_032861.4(SERAC1):c.-1-10A>G |
single nucleotide variant |
not provided [RCV001541072] |
Chr6:158158374 [GRCh38] Chr6:158579406 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.610-169_610-146del |
deletion |
not provided [RCV001645989] |
Chr6:158143330..158143353 [GRCh38] Chr6:158564362..158564385 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.610-169T>G |
single nucleotide variant |
not provided [RCV001564229] |
Chr6:158143353 [GRCh38] Chr6:158564385 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.387T>C (p.His129=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002065903] |
Chr6:158146882 [GRCh38] Chr6:158567914 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1502-216_1502-215insTTA |
insertion |
not provided [RCV001586347] |
Chr6:158115186..158115187 [GRCh38] Chr6:158536218..158536219 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1016-206G>A |
single nucleotide variant |
not provided [RCV001547942] |
Chr6:158120781 [GRCh38] Chr6:158541813 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.92-13_92-10del |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000761487] |
Chr6:158155361..158155364 [GRCh38] Chr6:158576393..158576396 [GRCh37] Chr6:6q25.3 |
likely pathogenic|uncertain significance |
NM_032861.4(SERAC1):c.1404-174A>G |
single nucleotide variant |
not provided [RCV001568981] |
Chr6:158116456 [GRCh38] Chr6:158537488 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.129-110T>C |
single nucleotide variant |
not provided [RCV001544560] |
Chr6:158150699 [GRCh38] Chr6:158571731 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.610-191TA[12] |
microsatellite |
not provided [RCV001584816] |
Chr6:158143348..158143351 [GRCh38] Chr6:158564380..158564383 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.610-173_610-148del |
deletion |
not provided [RCV001692718] |
Chr6:158143332..158143357 [GRCh38] Chr6:158564364..158564389 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.129-9C>T |
single nucleotide variant |
not provided [RCV000948752] |
Chr6:158150598 [GRCh38] Chr6:158571630 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.22G>A (p.Val8Ile) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000879586] |
Chr6:158158342 [GRCh38] Chr6:158579374 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1821A>G (p.Glu607=) |
single nucleotide variant |
not provided [RCV000942474] |
Chr6:158113456 [GRCh38] Chr6:158534488 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.900A>G (p.Leu300=) |
single nucleotide variant |
not provided [RCV000916545] |
Chr6:158128223 [GRCh38] Chr6:158549255 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.525G>A (p.Pro175=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001444026] |
Chr6:158144383 [GRCh38] Chr6:158565415 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del) |
microsatellite |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000896889]|not provided [RCV001585860] |
Chr6:158155340..158155342 [GRCh38] Chr6:158576372..158576374 [GRCh37] Chr6:6q25.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_032861.4(SERAC1):c.129-34C>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001807358]|not provided [RCV000830810] |
Chr6:158150623 [GRCh38] Chr6:158571655 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1502-113T>A |
single nucleotide variant |
not provided [RCV000830811] |
Chr6:158115084 [GRCh38] Chr6:158536116 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.853-3C>T |
single nucleotide variant |
not provided [RCV000841293] |
Chr6:158128273 [GRCh38] Chr6:158549305 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000799821] |
Chr6:158113512 [GRCh38] Chr6:158534544 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1742dup (p.Asn581fs) |
duplication |
not provided [RCV000998732] |
Chr6:158113534..158113535 [GRCh38] Chr6:158534566..158534567 [GRCh37] Chr6:6q25.3 |
likely pathogenic |
NM_032861.4(SERAC1):c.1077T>C (p.Ala359=) |
single nucleotide variant |
not provided [RCV000836846] |
Chr6:158120514 [GRCh38] Chr6:158541546 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1166+282C>T |
single nucleotide variant |
not provided [RCV000840580] |
Chr6:158120143 [GRCh38] Chr6:158541175 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.355+211C>T |
single nucleotide variant |
not provided [RCV000840581] |
Chr6:158148654 [GRCh38] Chr6:158569686 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.356-311C>G |
single nucleotide variant |
not provided [RCV000840582] |
Chr6:158147224 [GRCh38] Chr6:158568256 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1308+233T>C |
single nucleotide variant |
not provided [RCV000840583] |
Chr6:158118796 [GRCh38] Chr6:158539828 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000808432] |
Chr6:158144340 [GRCh38] Chr6:158565372 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.91+68A>G |
single nucleotide variant |
not provided [RCV000830809] |
Chr6:158158205 [GRCh38] Chr6:158579237 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.609+63C>G |
single nucleotide variant |
not provided [RCV000830897] |
Chr6:158144236 [GRCh38] Chr6:158565268 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.356-216C>T |
single nucleotide variant |
not provided [RCV000830908] |
Chr6:158147129 [GRCh38] Chr6:158568161 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000809456]|SERAC1-related disorder [RCV003336206]|not provided [RCV001779079] |
Chr6:158116193 [GRCh38] Chr6:158537225 [GRCh37] Chr6:6q25.3 |
pathogenic|likely pathogenic|uncertain significance |
GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3 |
copy number gain |
not provided [RCV000848057] |
Chr6:157262571..160992289 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.129-85C>G |
single nucleotide variant |
not provided [RCV000835598] |
Chr6:158150674 [GRCh38] Chr6:158571706 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.266-48dup |
duplication |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001807359]|not provided [RCV000830947] |
Chr6:158148992..158148993 [GRCh38] Chr6:158570024..158570025 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.610-191TA[13] |
microsatellite |
not provided [RCV001582063] |
Chr6:158143348..158143349 [GRCh38] Chr6:158564380..158564381 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1428C>T (p.Asn476=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002544571] |
Chr6:158116258 [GRCh38] Chr6:158537290 [GRCh37] Chr6:6q25.3 |
likely benign |
NC_000006.12:g.158117726C>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000845109] |
|
pathogenic |
NM_032861.4(SERAC1):c.364A>G (p.Ser122Gly) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000938662] |
Chr6:158146905 [GRCh38] Chr6:158567937 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.438del (p.Thr147fs) |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000850598] |
Chr6:158146831 [GRCh38] Chr6:158567863 [GRCh37] Chr6:6q25.3 |
pathogenic |
GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3 |
copy number gain |
not provided [RCV000846496] |
Chr6:148195086..160127254 [GRCh37] Chr6:6q24.3-25.3 |
pathogenic |
GRCh37/hg19 6q25.3(chr6:158560805-158764786)x1 |
copy number loss |
not provided [RCV000847445] |
Chr6:158560805..158764786 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.698T>A (p.Leu233Ter) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000991378] |
Chr6:158143096 [GRCh38] Chr6:158564128 [GRCh37] Chr6:6q25.3 |
likely pathogenic |
GRCh37/hg19 6q25.3(chr6:158567861-158571603) |
copy number loss |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001195160] |
Chr6:158567861..158571603 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1688C>G (p.Ser563Cys) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001240600]|Inborn genetic diseases [RCV002563978]|SERAC1-related disorder [RCV004727029]|not provided [RCV003442802] |
Chr6:158113589 [GRCh38] Chr6:158534621 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.524C>T (p.Pro175Leu) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001234427] |
Chr6:158144384 [GRCh38] Chr6:158565416 [GRCh37] Chr6:6q25.3 |
uncertain significance |
GRCh37/hg19 6q25.2-25.3(chr6:155426680-158863541)x3 |
copy number gain |
not provided [RCV000845753] |
Chr6:155426680..158863541 [GRCh37] Chr6:6q25.2-25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.932G>T (p.Cys311Phe) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001043255] |
Chr6:158128191 [GRCh38] Chr6:158549223 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001345991]|not provided [RCV001090780] |
Chr6:158150515 [GRCh38] Chr6:158571547 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.610-169_610-148del |
deletion |
not provided [RCV001549575] |
Chr6:158143332..158143353 [GRCh38] Chr6:158564364..158564385 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1404-247G>A |
single nucleotide variant |
not provided [RCV001576713] |
Chr6:158116529 [GRCh38] Chr6:158537561 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.739-127A>G |
single nucleotide variant |
not provided [RCV001577471] |
Chr6:158130613 [GRCh38] Chr6:158551645 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.91+282G>A |
single nucleotide variant |
not provided [RCV001552469] |
Chr6:158157991 [GRCh38] Chr6:158579023 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.-1A>T |
single nucleotide variant |
not specified [RCV003317966] |
Chr6:158158364 [GRCh38] Chr6:158579396 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1167-290A>G |
single nucleotide variant |
not provided [RCV001553243] |
Chr6:158119460 [GRCh38] Chr6:158540492 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1501+118T>C |
single nucleotide variant |
not provided [RCV001559876] |
Chr6:158116067 [GRCh38] Chr6:158537099 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.610-171_610-148del |
deletion |
not provided [RCV001651594] |
Chr6:158143332..158143355 [GRCh38] Chr6:158564364..158564387 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.129-320G>A |
single nucleotide variant |
not provided [RCV001645325] |
Chr6:158150909 [GRCh38] Chr6:158571941 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.129-31T>C |
single nucleotide variant |
not provided [RCV001560886] |
Chr6:158150620 [GRCh38] Chr6:158571652 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.610-210AT[4] |
microsatellite |
not provided [RCV001598789] |
Chr6:158143385..158143386 [GRCh38] Chr6:158564417..158564418 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.129-157A>G |
single nucleotide variant |
not provided [RCV001715855] |
Chr6:158150746 [GRCh38] Chr6:158571778 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.-1-142del |
deletion |
not provided [RCV001713352] |
Chr6:158158506 [GRCh38] Chr6:158579538 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.266-268C>T |
single nucleotide variant |
not provided [RCV001708876] |
Chr6:158149222 [GRCh38] Chr6:158570254 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.610-173_610-150del |
deletion |
not provided [RCV001619709] |
Chr6:158143334..158143357 [GRCh38] Chr6:158564366..158564389 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.610-175_610-150del |
deletion |
not provided [RCV001550967] |
Chr6:158143334..158143359 [GRCh38] Chr6:158564366..158564391 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.610-167_610-144del |
deletion |
not provided [RCV001710350] |
Chr6:158143328..158143351 [GRCh38] Chr6:158564360..158564383 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.266-194G>A |
single nucleotide variant |
not provided [RCV001586607] |
Chr6:158149148 [GRCh38] Chr6:158570180 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1309-136G>A |
single nucleotide variant |
not provided [RCV001562952] |
Chr6:158117957 [GRCh38] Chr6:158538989 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1684+168T>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002495928]|not provided [RCV001587568] |
Chr6:158114621 [GRCh38] Chr6:158535653 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1016-62A>G |
single nucleotide variant |
not provided [RCV001563295] |
Chr6:158120637 [GRCh38] Chr6:158541669 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.610-171_610-150del |
deletion |
not provided [RCV001644041] |
Chr6:158143334..158143355 [GRCh38] Chr6:158564366..158564387 [GRCh37] Chr6:6q25.3 |
benign |
NC_000006.12:g.158168341G>A |
single nucleotide variant |
not provided [RCV001710617] |
Chr6:158168341 [GRCh38] Chr6:158589373 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1501+170G>C |
single nucleotide variant |
not provided [RCV001588263] |
Chr6:158116015 [GRCh38] Chr6:158537047 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV000974726]|not provided [RCV001585893] |
Chr6:158114814 [GRCh38] Chr6:158535846 [GRCh37] Chr6:6q25.3 |
benign|likely benign |
NM_032861.4(SERAC1):c.853-7G>A |
single nucleotide variant |
not provided [RCV000912807] |
Chr6:158128277 [GRCh38] Chr6:158549309 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1308+216T>C |
single nucleotide variant |
not provided [RCV001557472] |
Chr6:158118813 [GRCh38] Chr6:158539845 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.128+98A>G |
single nucleotide variant |
not provided [RCV001548145] |
Chr6:158155217 [GRCh38] Chr6:158576249 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.128+158T>C |
single nucleotide variant |
not provided [RCV001595268] |
Chr6:158155157 [GRCh38] Chr6:158576189 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.487+200dup |
duplication |
not provided [RCV001552640] |
Chr6:158146575..158146576 [GRCh38] Chr6:158567607..158567608 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1684+224_1684+226del |
microsatellite |
not provided [RCV001553076] |
Chr6:158114563..158114565 [GRCh38] Chr6:158535595..158535597 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1231C>T (p.Arg411Cys) |
single nucleotide variant |
not provided [RCV003234300] |
Chr6:158119106 [GRCh38] Chr6:158540138 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1404-175A>G |
single nucleotide variant |
not provided [RCV001559948] |
Chr6:158116457 [GRCh38] Chr6:158537489 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1502-248A>G |
single nucleotide variant |
not provided [RCV001576070] |
Chr6:158115219 [GRCh38] Chr6:158536251 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1501+69_1501+73del |
deletion |
not provided [RCV001560917] |
Chr6:158116112..158116116 [GRCh38] Chr6:158537144..158537148 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1309-156_1309-155insAA |
insertion |
not provided [RCV001561268] |
Chr6:158117976..158117977 [GRCh38] Chr6:158539008..158539009 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1502-272C>G |
single nucleotide variant |
not provided [RCV001574125] |
Chr6:158115243 [GRCh38] Chr6:158536275 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.610-169_610-144del |
deletion |
not provided [RCV001556093] |
Chr6:158143328..158143353 [GRCh38] Chr6:158564360..158564385 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.610-167_610-146del |
deletion |
not provided [RCV001547654] |
Chr6:158143330..158143351 [GRCh38] Chr6:158564362..158564383 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1027A>T (p.Ile343Phe) |
single nucleotide variant |
Seizure [RCV001263330] |
Chr6:158120564 [GRCh38] Chr6:158541596 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.610-163GA[20] |
microsatellite |
not provided [RCV001545522] |
Chr6:158143306..158143307 [GRCh38] Chr6:158564338..158564339 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.266-11A>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002073161]|not provided [RCV001672112] |
Chr6:158148965 [GRCh38] Chr6:158569997 [GRCh37] Chr6:6q25.3 |
benign|likely benign |
NC_000006.12:g.158168365C>T |
single nucleotide variant |
not provided [RCV001652999] |
Chr6:158168365 [GRCh38] Chr6:158589397 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.852+71G>T |
single nucleotide variant |
not provided [RCV001581387] |
Chr6:158130302 [GRCh38] Chr6:158551334 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.128+206T>C |
single nucleotide variant |
not provided [RCV001586764] |
Chr6:158155109 [GRCh38] Chr6:158576141 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.610-175_610-148del |
deletion |
not provided [RCV001593783] |
Chr6:158143332..158143359 [GRCh38] Chr6:158564364..158564391 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.610-202A>G |
single nucleotide variant |
not provided [RCV001637942] |
Chr6:158143386 [GRCh38] Chr6:158564418 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1404-11G>A |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002573362]|not provided [RCV001598484] |
Chr6:158116293 [GRCh38] Chr6:158537325 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.610-188A>G |
single nucleotide variant |
not provided [RCV001677266] |
Chr6:158143372 [GRCh38] Chr6:158564404 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001072002]|not provided [RCV001759852] |
Chr6:158119045 [GRCh38] Chr6:158540077 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1308+60T>G |
single nucleotide variant |
not provided [RCV001583251] |
Chr6:158118969 [GRCh38] Chr6:158540001 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.*211T>C |
single nucleotide variant |
not provided [RCV001695667] |
Chr6:158111155 [GRCh38] Chr6:158532187 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.*296AG[2] |
microsatellite |
not provided [RCV001584625] |
Chr6:158111065..158111066 [GRCh38] Chr6:158532097..158532098 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.487+229G>A |
single nucleotide variant |
not provided [RCV001710789] |
Chr6:158146553 [GRCh38] Chr6:158567585 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1375G>A (p.Asp459Asn) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001069770] |
Chr6:158117755 [GRCh38] Chr6:158538787 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1404-188G>A |
single nucleotide variant |
not provided [RCV001580921] |
Chr6:158116470 [GRCh38] Chr6:158537502 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.-2+133C>A |
single nucleotide variant |
not provided [RCV001613528] |
Chr6:158168007 [GRCh38] Chr6:158589039 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.610-191TA[10] |
microsatellite |
not provided [RCV001583586] |
Chr6:158143348..158143355 [GRCh38] Chr6:158564380..158564387 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.610-177T>G |
single nucleotide variant |
not provided [RCV001527992] |
Chr6:158143361 [GRCh38] Chr6:158564393 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1167-242G>C |
single nucleotide variant |
not provided [RCV001566410] |
Chr6:158119412 [GRCh38] Chr6:158540444 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1308+43_1308+57del |
microsatellite |
not provided [RCV001583797] |
Chr6:158118972..158118986 [GRCh38] Chr6:158540004..158540018 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.610-171_610-146del |
deletion |
not provided [RCV001690745] |
Chr6:158143330..158143355 [GRCh38] Chr6:158564362..158564387 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1270A>G (p.Met424Val) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001057291] |
Chr6:158119067 [GRCh38] Chr6:158540099 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1823dup (p.Ala609fs) |
duplication |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001208139] |
Chr6:158113453..158113454 [GRCh38] Chr6:158534485..158534486 [GRCh37] Chr6:6q25.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001063965]|not provided [RCV001664654] |
Chr6:158114935 [GRCh38] Chr6:158535967 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1016-5A>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001054090] |
Chr6:158120580 [GRCh38] Chr6:158541612 [GRCh37] Chr6:6q25.3 |
likely benign|uncertain significance |
NM_032861.4(SERAC1):c.418A>G (p.Ser140Gly) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001071841]|Inborn genetic diseases [RCV002555912] |
Chr6:158146851 [GRCh38] Chr6:158567883 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001089492]|not provided [RCV001664677] |
Chr6:158128207 [GRCh38] Chr6:158549239 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1404-3C>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001062820]|Inborn genetic diseases [RCV002553929]|not provided [RCV001553162] |
Chr6:158116285 [GRCh38] Chr6:158537317 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1684+91_1684+92insTTCCTTGAATGTATTATCTTATTTTATA |
insertion |
not provided [RCV001580834] |
Chr6:158114697..158114698 [GRCh38] Chr6:158535729..158535730 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1016-100G>A |
single nucleotide variant |
not provided [RCV001565004] |
Chr6:158120675 [GRCh38] Chr6:158541707 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1488dup (p.His497fs) |
duplication |
not provided [RCV001268274] |
Chr6:158116197..158116198 [GRCh38] Chr6:158537229..158537230 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1403+119G>T |
single nucleotide variant |
not provided [RCV001540081] |
Chr6:158117608 [GRCh38] Chr6:158538640 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1404-181_1404-179del |
deletion |
not provided [RCV001537031] |
Chr6:158116461..158116463 [GRCh38] Chr6:158537493..158537495 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.308_311del (p.Arg103fs) |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001261649] |
Chr6:158148909..158148912 [GRCh38] Chr6:158569941..158569944 [GRCh37] Chr6:6q25.3 |
likely pathogenic |
NM_032861.4(SERAC1):c.1763del (p.Val588fs) |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001332719]|not provided [RCV001664834] |
Chr6:158113514 [GRCh38] Chr6:158534546 [GRCh37] Chr6:6q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_032861.4(SERAC1):c.1364C>G (p.Thr455Ser) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001337509] |
Chr6:158117766 [GRCh38] Chr6:158538798 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.935C>T (p.Pro312Leu) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001333375] |
Chr6:158128188 [GRCh38] Chr6:158549220 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1843G>A (p.Asp615Asn) |
single nucleotide variant |
not provided [RCV001357772] |
Chr6:158111488 [GRCh38] Chr6:158532520 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.931T>C (p.Cys311Arg) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001368193] |
Chr6:158128192 [GRCh38] Chr6:158549224 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1762G>A (p.Val588Met) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001325604] |
Chr6:158113515 [GRCh38] Chr6:158534547 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1640G>A (p.Arg547His) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001349616] |
Chr6:158114833 [GRCh38] Chr6:158535865 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1295C>T (p.Thr432Met) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001359452]|not provided [RCV003235560] |
Chr6:158119042 [GRCh38] Chr6:158540074 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1660T>G (p.Leu554Val) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001366240]|Inborn genetic diseases [RCV002548577]|not provided [RCV003232328] |
Chr6:158114813 [GRCh38] Chr6:158535845 [GRCh37] Chr6:6q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032861.4(SERAC1):c.610G>T (p.Asp204Tyr) |
single nucleotide variant |
not provided [RCV001357302] |
Chr6:158143184 [GRCh38] Chr6:158564216 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.488-3T>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001366858] |
Chr6:158144423 [GRCh38] Chr6:158565455 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1653C>T (p.Phe551=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001404947] |
Chr6:158114820 [GRCh38] Chr6:158535852 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.487+19C>T |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001519159] |
Chr6:158146763 [GRCh38] Chr6:158567795 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1684+209T>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002501871]|not provided [RCV001536694] |
Chr6:158114580 [GRCh38] Chr6:158535612 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.265+147A>G |
single nucleotide variant |
not provided [RCV001538874] |
Chr6:158150306 [GRCh38] Chr6:158571338 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1850_1851insA (p.Pro618fs) |
insertion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001542661] |
Chr6:158111480..158111481 [GRCh38] Chr6:158532512..158532513 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1684+7C>A |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001438198] |
Chr6:158114782 [GRCh38] Chr6:158535814 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1166+8del |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001408918] |
Chr6:158120417 [GRCh38] Chr6:158541449 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.356-191G>A |
single nucleotide variant |
not provided [RCV001538684] |
Chr6:158147104 [GRCh38] Chr6:158568136 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.356-84G>A |
single nucleotide variant |
not provided [RCV001713389] |
Chr6:158146997 [GRCh38] Chr6:158568029 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1308+100C>T |
single nucleotide variant |
not provided [RCV001590111] |
Chr6:158118929 [GRCh38] Chr6:158539961 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.610-179_610-148del |
deletion |
not provided [RCV001590371] |
Chr6:158143332..158143363 [GRCh38] Chr6:158564364..158564395 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1308+17C>A |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001518300] |
Chr6:158119012 [GRCh38] Chr6:158540044 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1539G>A (p.Thr513=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001480272] |
Chr6:158114934 [GRCh38] Chr6:158535966 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.92-14_92-10del |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002284993] |
Chr6:158155361..158155365 [GRCh38] Chr6:158576393..158576397 [GRCh37] Chr6:6q25.3 |
pathogenic|uncertain significance |
NM_032861.4:c.1577G>A |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001780000] |
|
pathogenic |
NM_032861.4(SERAC1):c.1504CTT[1] (p.Leu503del) |
microsatellite |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001799538] |
Chr6:158114964..158114966 [GRCh38] Chr6:158535996..158535998 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.91+2dup |
duplication |
not provided [RCV001787675] |
Chr6:158158270..158158271 [GRCh38] Chr6:158579302..158579303 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1505T>G (p.Leu502Arg) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001944952] |
Chr6:158114968 [GRCh38] Chr6:158536000 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.92-383T>C |
single nucleotide variant |
not provided [RCV001786201] |
Chr6:158155734 [GRCh38] Chr6:158576766 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.92-468A>G |
single nucleotide variant |
not provided [RCV001786223] |
Chr6:158155819 [GRCh38] Chr6:158576851 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.610-179T>G |
single nucleotide variant |
not provided [RCV001754414] |
Chr6:158143363 [GRCh38] Chr6:158564395 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1259T>C (p.Ile420Thr) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002032731]|not provided [RCV001733435] |
Chr6:158119078 [GRCh38] Chr6:158540110 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.-52C>A |
single nucleotide variant |
not provided [RCV001799948] |
Chr6:158168190 [GRCh38] Chr6:158589222 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.717_720del (p.Ser239fs) |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001783726] |
Chr6:158143074..158143077 [GRCh38] Chr6:158564106..158564109 [GRCh37] Chr6:6q25.3 |
likely pathogenic |
NM_032861.4(SERAC1):c.1405_1408dup (p.Ser470Ter) |
duplication |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001783727] |
Chr6:158116277..158116278 [GRCh38] Chr6:158537309..158537310 [GRCh37] Chr6:6q25.3 |
likely pathogenic |
NM_032861.4(SERAC1):c.772C>T (p.Pro258Ser) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001907795]|not provided [RCV002463051] |
Chr6:158130453 [GRCh38] Chr6:158551485 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.87T>G (p.Asp29Glu) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001870772] |
Chr6:158158277 [GRCh38] Chr6:158579309 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1685-3C>T |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001908199] |
Chr6:158113595 [GRCh38] Chr6:158534627 [GRCh37] Chr6:6q25.3 |
uncertain significance |
GRCh37/hg19 6q25.3(chr6:158392800-159229197) |
copy number gain |
not specified [RCV002053649] |
Chr6:158392800..159229197 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.625G>T (p.Glu209Ter) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001948412] |
Chr6:158143169 [GRCh38] Chr6:158564201 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.583C>T (p.Pro195Ser) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001967598]|Inborn genetic diseases [RCV003247189] |
Chr6:158144325 [GRCh38] Chr6:158565357 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.677G>T (p.Cys226Phe) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002020628] |
Chr6:158143117 [GRCh38] Chr6:158564149 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1403+1G>A |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001946827] |
Chr6:158117726 [GRCh38] Chr6:158538758 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1403+5C>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001912127] |
Chr6:158117722 [GRCh38] Chr6:158538754 [GRCh37] Chr6:6q25.3 |
uncertain significance |
GRCh37/hg19 6q25.2-26(chr6:153207930-164322346) |
copy number loss |
not specified [RCV002053640] |
Chr6:153207930..164322346 [GRCh37] Chr6:6q25.2-26 |
pathogenic |
GRCh37/hg19 6q25.3(chr6:155525920-159889169) |
copy number loss |
not specified [RCV002053642] |
Chr6:155525920..159889169 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1725_1727dup (p.Glu575_Phe576insLeu) |
duplication |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001967813] |
Chr6:158113549..158113550 [GRCh38] Chr6:158534581..158534582 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1915C>T (p.Arg639Cys) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001891427] |
Chr6:158111416 [GRCh38] Chr6:158532448 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.443G>T (p.Arg148Leu) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001825275] |
Chr6:158146826 [GRCh38] Chr6:158567858 [GRCh37] Chr6:6q25.3 |
not provided |
NM_032861.4(SERAC1):c.69T>G (p.Ser23Arg) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001942673] |
Chr6:158158295 [GRCh38] Chr6:158579327 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.44G>A (p.Gly15Glu) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001886751]|not provided [RCV004693879] |
Chr6:158158320 [GRCh38] Chr6:158579352 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.487+5T>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001887756] |
Chr6:158146777 [GRCh38] Chr6:158567809 [GRCh37] Chr6:6q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NC_000006.11:g.(?_158532398)_(160114199_?)dup |
duplication |
Primary ciliary dyskinesia 32 [RCV001934131] |
Chr6:158532398..160114199 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.254G>A (p.Gly85Glu) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001982571] |
Chr6:158150464 [GRCh38] Chr6:158571496 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1501+4A>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001981362]|SERAC1-related disorder [RCV003892997] |
Chr6:158116181 [GRCh38] Chr6:158537213 [GRCh37] Chr6:6q25.3 |
likely benign|uncertain significance |
NM_032861.4(SERAC1):c.1334C>A (p.Ala445Asp) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002020186] |
Chr6:158117796 [GRCh38] Chr6:158538828 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1846C>A (p.Leu616Ile) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001925855] |
Chr6:158111485 [GRCh38] Chr6:158532517 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.329C>T (p.Ala110Val) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001920689] |
Chr6:158148891 [GRCh38] Chr6:158569923 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.855A>G (p.Ile285Met) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001992582]|Inborn genetic diseases [RCV004656772] |
Chr6:158128268 [GRCh38] Chr6:158549300 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1684+1G>T |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002032263] |
Chr6:158114788 [GRCh38] Chr6:158535820 [GRCh37] Chr6:6q25.3 |
likely pathogenic |
NM_032861.4(SERAC1):c.326C>T (p.Ser109Leu) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001958433] |
Chr6:158148894 [GRCh38] Chr6:158569926 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1501+4A>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001931632] |
Chr6:158116181 [GRCh38] Chr6:158537213 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1642T>C (p.Tyr548His) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001973215] |
Chr6:158114831 [GRCh38] Chr6:158535863 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1501+6T>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001995370] |
Chr6:158116179 [GRCh38] Chr6:158537211 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1309-19T>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001997189] |
Chr6:158117840 [GRCh38] Chr6:158538872 [GRCh37] Chr6:6q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032861.4(SERAC1):c.1537A>G (p.Thr513Ala) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001906966]|Inborn genetic diseases [RCV002555673] |
Chr6:158114936 [GRCh38] Chr6:158535968 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.206A>G (p.Glu69Gly) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001907250] |
Chr6:158150512 [GRCh38] Chr6:158571544 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1962C>G (p.Asn654Lys) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001902490] |
Chr6:158111369 [GRCh38] Chr6:158532401 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1169A>G (p.Gln390Arg) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001901710] |
Chr6:158119168 [GRCh38] Chr6:158540200 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.86A>G (p.Asp29Gly) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV001881762] |
Chr6:158158278 [GRCh38] Chr6:158579310 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1684+7C>T |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002149178] |
Chr6:158114782 [GRCh38] Chr6:158535814 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.738+7T>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002108477] |
Chr6:158143049 [GRCh38] Chr6:158564081 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1413T>C (p.Ile471=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002191950] |
Chr6:158116273 [GRCh38] Chr6:158537305 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.356-16T>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002210594] |
Chr6:158146929 [GRCh38] Chr6:158567961 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.21C>T (p.Cys7=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002168566] |
Chr6:158158343 [GRCh38] Chr6:158579375 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1501+16A>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002191795] |
Chr6:158116169 [GRCh38] Chr6:158537201 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.840A>T (p.Val280=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002134936] |
Chr6:158130385 [GRCh38] Chr6:158551417 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1502-20T>A |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002132880] |
Chr6:158114991 [GRCh38] Chr6:158536023 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.355+10C>T |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002171270] |
Chr6:158148855 [GRCh38] Chr6:158569887 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.552C>T (p.Ser184=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002171295] |
Chr6:158144356 [GRCh38] Chr6:158565388 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.780T>C (p.Ala260=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002134875] |
Chr6:158130445 [GRCh38] Chr6:158551477 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.92-17C>T |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002133784] |
Chr6:158155368 [GRCh38] Chr6:158576400 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1182A>G (p.Ala394=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002152962] |
Chr6:158119155 [GRCh38] Chr6:158540187 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.128+8G>A |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002109908] |
Chr6:158155307 [GRCh38] Chr6:158576339 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.92-16T>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002077723] |
Chr6:158155367 [GRCh38] Chr6:158576399 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.285A>G (p.Arg95=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002197916] |
Chr6:158148935 [GRCh38] Chr6:158569967 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.138A>G (p.Leu46=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002119541] |
Chr6:158150580 [GRCh38] Chr6:158571612 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.852+7T>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002082049] |
Chr6:158130366 [GRCh38] Chr6:158551398 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1685-12A>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002158767] |
Chr6:158113604 [GRCh38] Chr6:158534636 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.739-15T>A |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002157757] |
Chr6:158130501 [GRCh38] Chr6:158551533 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.487+12A>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002123245] |
Chr6:158146770 [GRCh38] Chr6:158567802 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.195G>A (p.Val65=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002121654] |
Chr6:158150523 [GRCh38] Chr6:158571555 [GRCh37] Chr6:6q25.3 |
likely benign |
NC_000006.11:g.(?_158532398)_(162868359_?)del |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003122912]|not provided [RCV003122911] |
Chr6:158532398..162868359 [GRCh37] Chr6:6q25.3-26 |
pathogenic|no classifications from unflagged records |
NM_032861.4(SERAC1):c.152A>G (p.Glu51Gly) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003121759] |
Chr6:158150566 [GRCh38] Chr6:158571598 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1667T>A (p.Val556Asp) |
single nucleotide variant |
SERAC1-related disorder [RCV004729146]|not provided [RCV002293165] |
Chr6:158114806 [GRCh38] Chr6:158535838 [GRCh37] Chr6:6q25.3 |
likely pathogenic|uncertain significance |
NM_032861.4(SERAC1):c.958C>A (p.Arg320Ser) |
single nucleotide variant |
not provided [RCV002288183] |
Chr6:158128165 [GRCh38] Chr6:158549197 [GRCh37] Chr6:6q25.3 |
uncertain significance |
GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1 |
copy number loss |
See cases [RCV002287557] |
Chr6:157318401..165233548 [GRCh37] Chr6:6q25.3-27 |
pathogenic |
NM_032861.4(SERAC1):c.1211G>A (p.Gly404Glu) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002468783] |
Chr6:158119126 [GRCh38] Chr6:158540158 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1195A>G (p.Ile399Val) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002304691] |
Chr6:158119142 [GRCh38] Chr6:158540174 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.412C>A (p.Arg138=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003013271] |
Chr6:158146857 [GRCh38] Chr6:158567889 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1704A>G (p.Thr568=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002862233] |
Chr6:158113573 [GRCh38] Chr6:158534605 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1163C>T (p.Thr388Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002794687] |
Chr6:158120428 [GRCh38] Chr6:158541460 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1934G>A (p.Arg645His) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002967955] |
Chr6:158111397 [GRCh38] Chr6:158532429 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.118C>T (p.Leu40Phe) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002908635] |
Chr6:158155325 [GRCh38] Chr6:158576357 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1611A>C (p.Ser537=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002615197] |
Chr6:158114862 [GRCh38] Chr6:158535894 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1684+20A>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002686109] |
Chr6:158114769 [GRCh38] Chr6:158535801 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1829-6C>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003016123] |
Chr6:158111508 [GRCh38] Chr6:158532540 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.738+5G>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002927706] |
Chr6:158143051 [GRCh38] Chr6:158564083 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.183A>G (p.Leu61=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003039117] |
Chr6:158150535 [GRCh38] Chr6:158571567 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1785T>C (p.Ile595=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003055796] |
Chr6:158113492 [GRCh38] Chr6:158534524 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.555A>G (p.Glu185=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002640412] |
Chr6:158144353 [GRCh38] Chr6:158565385 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1825G>A (p.Ala609Thr) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002886531] |
Chr6:158113452 [GRCh38] Chr6:158534484 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.958C>T (p.Arg320Cys) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002639321]|Inborn genetic diseases [RCV002658379] |
Chr6:158128165 [GRCh38] Chr6:158549197 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.310A>T (p.Lys104Ter) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003037199] |
Chr6:158148910 [GRCh38] Chr6:158569942 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.76C>T (p.His26Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002739357] |
Chr6:158158288 [GRCh38] Chr6:158579320 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1203C>A (p.Gly401=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002760749] |
Chr6:158119134 [GRCh38] Chr6:158540166 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.863A>C (p.His288Pro) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003021453] |
Chr6:158128260 [GRCh38] Chr6:158549292 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.29G>C (p.Cys10Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002703985] |
Chr6:158158335 [GRCh38] Chr6:158579367 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1308+6G>A |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002912733] |
Chr6:158119023 [GRCh38] Chr6:158540055 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1365C>T (p.Thr455=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002736333] |
Chr6:158117765 [GRCh38] Chr6:158538797 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.777T>G (p.Tyr259Ter) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002691018] |
Chr6:158130448 [GRCh38] Chr6:158551480 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1003A>G (p.Ile335Val) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003079948]|not provided [RCV004765669] |
Chr6:158128120 [GRCh38] Chr6:158549152 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1965A>G (p.Ter655=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002885768] |
Chr6:158111366 [GRCh38] Chr6:158532398 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.92-10del |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002791405] |
Chr6:158155361 [GRCh38] Chr6:158576393 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.771T>C (p.Leu257=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002871622] |
Chr6:158130454 [GRCh38] Chr6:158551486 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1272G>A (p.Met424Ile) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002596450] |
Chr6:158119065 [GRCh38] Chr6:158540097 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1839T>A (p.Ile613=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003081979] |
Chr6:158111492 [GRCh38] Chr6:158532524 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.429T>A (p.Asp143Glu) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003057458] |
Chr6:158146840 [GRCh38] Chr6:158567872 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.341G>A (p.Arg114Gln) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002929177] |
Chr6:158148879 [GRCh38] Chr6:158569911 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.821T>C (p.Phe274Ser) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002741504] |
Chr6:158130404 [GRCh38] Chr6:158551436 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1684+10T>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002917523] |
Chr6:158114779 [GRCh38] Chr6:158535811 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1720C>G (p.Leu574Val) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002954332] |
Chr6:158113557 [GRCh38] Chr6:158534589 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.334A>T (p.Ile112Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002830358] |
Chr6:158148886 [GRCh38] Chr6:158569918 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1876A>G (p.Ile626Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002956486] |
Chr6:158111455 [GRCh38] Chr6:158532487 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.582A>G (p.Leu194=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002890752] |
Chr6:158144326 [GRCh38] Chr6:158565358 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1766A>C (p.Glu589Ala) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003005795] |
Chr6:158113511 [GRCh38] Chr6:158534543 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.356-20G>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003042568] |
Chr6:158146933 [GRCh38] Chr6:158567965 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.340C>T (p.Arg114Trp) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003082132] |
Chr6:158148880 [GRCh38] Chr6:158569912 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1848A>G (p.Leu616=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003039972] |
Chr6:158111483 [GRCh38] Chr6:158532515 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1793T>C (p.Met598Thr) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003024298] |
Chr6:158113484 [GRCh38] Chr6:158534516 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.536T>C (p.Ile179Thr) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003082159]|not provided [RCV004721112] |
Chr6:158144372 [GRCh38] Chr6:158565404 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.897G>A (p.Gln299=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003059398] |
Chr6:158128226 [GRCh38] Chr6:158549258 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.439A>C (p.Thr147Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002788961] |
Chr6:158146830 [GRCh38] Chr6:158567862 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1264A>G (p.Lys422Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002744363] |
Chr6:158119073 [GRCh38] Chr6:158540105 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.739-13A>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003056851] |
Chr6:158130499 [GRCh38] Chr6:158551531 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.194T>C (p.Val65Ala) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003042028] |
Chr6:158150524 [GRCh38] Chr6:158571556 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1266dup (p.Pro423fs) |
duplication |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002720597] |
Chr6:158119070..158119071 [GRCh38] Chr6:158540102..158540103 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.940G>T (p.Val314Leu) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002647061] |
Chr6:158128183 [GRCh38] Chr6:158549215 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.265+11del |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002650230] |
Chr6:158150442 [GRCh38] Chr6:158571474 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.91+13T>A |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003091019] |
Chr6:158158260 [GRCh38] Chr6:158579292 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1089G>C (p.Leu363=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002651255] |
Chr6:158120502 [GRCh38] Chr6:158541534 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.566T>C (p.Leu189Pro) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002632452] |
Chr6:158144342 [GRCh38] Chr6:158565374 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.819G>A (p.Met273Ile) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002806280] |
Chr6:158130406 [GRCh38] Chr6:158551438 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1396A>G (p.Met466Val) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003088652] |
Chr6:158117734 [GRCh38] Chr6:158538766 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.72C>A (p.Gly24=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002898724] |
Chr6:158158292 [GRCh38] Chr6:158579324 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1404-13TTGTT[3] |
microsatellite |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002576603] |
Chr6:158116285..158116286 [GRCh38] Chr6:158537317..158537318 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1166+15G>A |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002832897] |
Chr6:158120410 [GRCh38] Chr6:158541442 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1374C>T (p.Ser458=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002922136]|not provided [RCV004774758] |
Chr6:158117756 [GRCh38] Chr6:158538788 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.808A>G (p.Thr270Ala) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002922796] |
Chr6:158130417 [GRCh38] Chr6:158551449 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1725G>C (p.Glu575Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002702554] |
Chr6:158113552 [GRCh38] Chr6:158534584 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.128+7C>T |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002629770]|SERAC1-related disorder [RCV003953965] |
Chr6:158155308 [GRCh38] Chr6:158576340 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.458G>A (p.Arg153Gln) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003089698] |
Chr6:158146811 [GRCh38] Chr6:158567843 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1501+5G>A |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003064945] |
Chr6:158116180 [GRCh38] Chr6:158537212 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.966del (p.Ile322fs) |
deletion |
Inborn genetic diseases [RCV002702979] |
Chr6:158128157 [GRCh38] Chr6:158549189 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1926_1930del (p.Gln642fs) |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002834883] |
Chr6:158111401..158111405 [GRCh38] Chr6:158532433..158532437 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.734A>G (p.Gln245Arg) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002648088] |
Chr6:158143060 [GRCh38] Chr6:158564092 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.412C>T (p.Arg138Trp) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002633553]|Inborn genetic diseases [RCV003349064] |
Chr6:158146857 [GRCh38] Chr6:158567889 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1009C>T (p.Arg337Cys) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003068316] |
Chr6:158128114 [GRCh38] Chr6:158549146 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.871A>G (p.Lys291Glu) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002653940] |
Chr6:158128252 [GRCh38] Chr6:158549284 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1628C>T (p.Ser543Phe) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002603557] |
Chr6:158114845 [GRCh38] Chr6:158535877 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1167-15T>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003073487] |
Chr6:158119185 [GRCh38] Chr6:158540217 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.301G>A (p.Ala101Thr) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002610173]|Inborn genetic diseases [RCV002582345] |
Chr6:158148919 [GRCh38] Chr6:158569951 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1166G>A (p.Ser389Asn) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002611546] |
Chr6:158120425 [GRCh38] Chr6:158541457 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.265+11T>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003072410] |
Chr6:158150442 [GRCh38] Chr6:158571474 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.719A>G (p.Gln240Arg) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV002587577] |
Chr6:158143075 [GRCh38] Chr6:158564107 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.835A>G (p.Ile279Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003261496] |
Chr6:158130390 [GRCh38] Chr6:158551422 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.738+1927G>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003140648] |
Chr6:158141129 [GRCh38] Chr6:158562161 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.*258G>A |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003226037] |
Chr6:158111108 [GRCh38] Chr6:158532140 [GRCh37] Chr6:6q25.3 |
benign |
NM_032861.4(SERAC1):c.1600C>T (p.His534Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003217173] |
Chr6:158114873 [GRCh38] Chr6:158535905 [GRCh37] Chr6:6q25.3 |
uncertain significance |
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1 |
copy number loss |
Coffin-Siris syndrome 1 [RCV003327723] |
Chr6:150905553..158511926 [GRCh38] Chr6:6q25.1-25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1693_1694dup (p.Leu566fs) |
duplication |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003338209] |
Chr6:158113582..158113583 [GRCh38] Chr6:158534614..158534615 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1339C>T (p.Arg447Ter) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003335876] |
Chr6:158117791 [GRCh38] Chr6:158538823 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1828+29G>A |
single nucleotide variant |
not provided [RCV003429018] |
Chr6:158113420 [GRCh38] Chr6:158534452 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1710A>G (p.Gln570=) |
single nucleotide variant |
not provided [RCV003432146] |
Chr6:158113567 [GRCh38] Chr6:158534599 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1502-16C>T |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003646596] |
Chr6:158114987 [GRCh38] Chr6:158536019 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1519_1521dup (p.Met507_Leu508insMet) |
duplication |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003646121] |
Chr6:158114951..158114952 [GRCh38] Chr6:158535983..158535984 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1311A>G (p.Thr437=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003646180] |
Chr6:158117819 [GRCh38] Chr6:158538851 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1228T>C (p.Trp410Arg) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003882753] |
Chr6:158119109 [GRCh38] Chr6:158540141 [GRCh37] Chr6:6q25.3 |
likely pathogenic |
NM_032861.4(SERAC1):c.1356G>A (p.Glu452=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003647075] |
Chr6:158117774 [GRCh38] Chr6:158538806 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1635T>C (p.Asn545=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003647092] |
Chr6:158114838 [GRCh38] Chr6:158535870 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.468G>A (p.Ser156=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003647243] |
Chr6:158146801 [GRCh38] Chr6:158567833 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1309-18A>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003646868] |
Chr6:158117839 [GRCh38] Chr6:158538871 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.885T>C (p.Asn295=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003647113] |
Chr6:158128238 [GRCh38] Chr6:158549270 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1684+2T>C |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003646718] |
Chr6:158114787 [GRCh38] Chr6:158535819 [GRCh37] Chr6:6q25.3 |
likely pathogenic |
NM_032861.4(SERAC1):c.134_137del (p.Ser45fs) |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003647183] |
Chr6:158150581..158150584 [GRCh38] Chr6:158571613..158571616 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.236_237del (p.Thr79fs) |
microsatellite |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003646014] |
Chr6:158150481..158150482 [GRCh38] Chr6:158571513..158571514 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.610-17C>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003646162] |
Chr6:158143201 [GRCh38] Chr6:158564233 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.91+9A>G |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003531832] |
Chr6:158158264 [GRCh38] Chr6:158579296 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.698_699delinsAGTGATA (p.Leu233Ter) |
indel |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003531881] |
Chr6:158143095..158143096 [GRCh38] Chr6:158564127..158564128 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.116C>G (p.Ser39Ter) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003534026] |
Chr6:158155327 [GRCh38] Chr6:158576359 [GRCh37] Chr6:6q25.3 |
pathogenic |
NM_032861.4(SERAC1):c.1260T>C (p.Ile420=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003532540] |
Chr6:158119077 [GRCh38] Chr6:158540109 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.92-20del |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003532518] |
Chr6:158155371 [GRCh38] Chr6:158576403 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.852+16A>T |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003846467] |
Chr6:158130357 [GRCh38] Chr6:158551389 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.162C>T (p.Ala54=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003863923] |
Chr6:158150556 [GRCh38] Chr6:158571588 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1598C>T (p.Pro533Leu) |
single nucleotide variant |
SERAC1-related neurological disorder [RCV003890772] |
Chr6:158114875 [GRCh38] Chr6:158535907 [GRCh37] Chr6:6q25.3 |
likely pathogenic |
NM_032861.4(SERAC1):c.876C>A (p.Ile292=) |
single nucleotide variant |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003818255] |
Chr6:158128247 [GRCh38] Chr6:158549279 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1963_*1del (p.Ter655SerextTer?) |
deletion |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003857204] |
Chr6:158111365..158111368 [GRCh38] Chr6:158532397..158532400 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1566C>T (p.Asn522=) |
single nucleotide variant |
SERAC1-related disorder [RCV003907123] |
Chr6:158114907 [GRCh38] Chr6:158535939 [GRCh37] Chr6:6q25.3 |
likely benign |
GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1 |
copy number loss |
See cases [RCV004442824] |
Chr6:152853218..170914297 [GRCh37] Chr6:6q25.2-27 |
pathogenic |
NM_032861.4(SERAC1):c.1053C>T (p.Pro351=) |
single nucleotide variant |
SERAC1-related disorder [RCV003951596] |
Chr6:158120538 [GRCh38] Chr6:158541570 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1308+8A>G |
single nucleotide variant |
SERAC1-related disorder [RCV003951568] |
Chr6:158119021 [GRCh38] Chr6:158540053 [GRCh37] Chr6:6q25.3 |
likely benign |
NC_000006.12:g.(?_150381239)_(159553952_?)del |
deletion |
Chromosome 6q24-q25 deletion syndrome [RCV003884000] |
Chr6:150381239..159553952 [GRCh38] Chr6:6q25.1-25.3 |
pathogenic |
NM_032861.4(SERAC1):c.186T>C (p.Asp62=) |
single nucleotide variant |
SERAC1-related disorder [RCV003934614] |
Chr6:158150532 [GRCh38] Chr6:158571564 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1607G>T (p.Gly536Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004453115] |
Chr6:158114866 [GRCh38] Chr6:158535898 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.686A>G (p.Tyr229Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004453117] |
Chr6:158143108 [GRCh38] Chr6:158564140 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.452C>T (p.Ala151Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004453116] |
Chr6:158146817 [GRCh38] Chr6:158567849 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1109C>G (p.Thr370Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004453114] |
Chr6:158120482 [GRCh38] Chr6:158541514 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.1233C>T (p.Arg411=) |
single nucleotide variant |
not provided [RCV004585934] |
Chr6:158119104 [GRCh38] Chr6:158540136 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.376A>G (p.Ile126Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004667119] |
Chr6:158146893 [GRCh38] Chr6:158567925 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1042A>G (p.Met348Val) |
single nucleotide variant |
not provided [RCV004770722] |
Chr6:158120549 [GRCh38] Chr6:158541581 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.517T>C (p.Cys173Arg) |
single nucleotide variant |
not provided [RCV004769489] |
Chr6:158144391 [GRCh38] Chr6:158565423 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.92-245G>A |
single nucleotide variant |
SERAC1-related disorder [RCV004740212] |
Chr6:158155596 [GRCh38] Chr6:158576628 [GRCh37] Chr6:6q25.3 |
likely benign |
NM_032861.4(SERAC1):c.1420A>G (p.Arg474Gly) |
single nucleotide variant |
not provided [RCV004767853] |
Chr6:158116266 [GRCh38] Chr6:158537298 [GRCh37] Chr6:6q25.3 |
uncertain significance |
NM_032861.4(SERAC1):c.272C>T (p.Ala91Val) |
single nucleotide variant |
not provided [RCV004768266] |
Chr6:158148948 [GRCh38] Chr6:158569980 [GRCh37] Chr6:6q25.3 |
uncertain significance |